title: Glucose-6-phosphate dehydrogenase laboratory assay: How, when, and why?
abstract: Glucose 6-phosphate dehydrogenase (G6PD) deficiency is the most common defect of red blood cells. Although some different laboratory techniques or methods are employed for the biochemical screening, a strict relationship between biochemists, clinicians, and molecular biologists is necessary for a definitive diagnosis. This article represents an overview on the current laboratory tests finalized to the screening or to the definitive diagnosis of G6PD-deficiency, underlying the problems regarding the biochemical and molecular identification of heterozygote females other than those regarding the standardization of the clinical and laboratory diagnostic procedures. Finally, this review is aimed to give a flow-chart for the complete diagnostic approach of G6PD-deficiency.
authors.affiliation: Laboratory of Clinical Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome, Rome, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Minucci
authors.forename: Bruno
authors.initials: B
authors.lastname: Giardina
authors.forename: Cecilia
authors.initials: C
authors.lastname: Zuppi
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008954:Models, Biological; D017354:Point Mutation / Q000235:genetics
chemical_list: D005954:Glucosephosphate Dehydrogenase